Uniparental Disomy Causing Myoclonus Dystonia Associated with Russell Silver Syndrome
Sign Up to like & getrecommendations! Published in 2019 at "Movement Disorders Clinical Practice"
DOI: 10.1002/mdc3.12768
Abstract: Myoclonus dystonia (MD) is a rare movement disorder characterized by alcohol-responsive myoclonic jerks, dystonia, and psychiatric complaints, which is often associated with an autosomal-dominant pathogenic variant (mutation) in the epsilon-sarcoglycan gene (SGCE), located on chromosome… read more here.
Keywords: uniparental disomy; mupd7; silver syndrome; russell silver ... See more keywords
Russell-Silver syndrome with cleft palate: a case report
Sign Up to like & getrecommendations! Published in 2018 at "Oral and Maxillofacial Surgery"
DOI: 10.1007/s10006-018-0734-6
Abstract: BackgroundRussell-Silver syndrome (RSS) is characterized by intrauterine growth retardation, short stature without postnatal catch-up growth, and an inverted triangular face with relative macrocephaly. There have been few case reports of RSS with cleft palate, in… read more here.
Keywords: cleft palate; silver syndrome; case; rss ... See more keywords
Absent digit in Russell-Silver syndrome: expanding the clinical spectrum of a well known syndrome.
Sign Up to like & getrecommendations! Published in 2019 at "Clinical Dysmorphology"
DOI: 10.1097/mcd.0000000000000308
Abstract: Introduction Russell-Silver syndrome (RSS, OMIM 180860) is a prenatal-onset growth insufficiency syndrome characterized by intrauterine growth restriction, postnatal growth failure, relative macrocephaly, frontal bossing, asymmetry, and feeding difficulty (Silver et al., 1953; Russell, 1954; Wakeling… read more here.
Keywords: absent digit; silver syndrome; russell silver; syndrome expanding ... See more keywords
Unusual association of torticollis with Russell-Silver syndrome
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DOI: 10.1136/bcr-2022-253967
Abstract: Russell-Silver syndrome is a unique disorder characterised by intrauterine growth retardation before and after birth, large-sized head, a triangular facial appearance, a protuberant forehead, asymmetry and feeding difficulties. This extensive spectrum of features varies in… read more here.
Keywords: silver syndrome; russell silver; association torticollis; unusual association ... See more keywords
Molecular Evaluation of Children with Clinical Russell-Silver Phenotypes: The First Report From Iran
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DOI: 10.5812/ijp.81388
Abstract: Background: Russell-Silver syndrome is a rare heterogeneous genetic disorder that is mostly known because of its prenatal and postnatal growth retardation. Patients with Russell-Silver syndrome have syndromic facial appearance, as well as some other common… read more here.
Keywords: silver syndrome; iran; methylation; russell silver ... See more keywords